Genetic Modifiers for 22q11.2 Syndrome

NCT00916955 | Completed

• 1 other identifier: 3669FF
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of the project is the determination of how the deletion of DNA from chromosome 22 at the q11.2 band causes the phenotypes observed in velo-cardio-facial syndrome (VCFS). In other words, the purpose remains genotype-to-phenotype matching. Current methods includes the use of whole genome chips and microarray analysis. Blood samples are collected for DNA from every patient who consents from the VCFS Center at Upstate Medical University. They are examined for phenotypic features consistent with our typical clinical evaluation. The information from these examinations will be entered anonymously into a database. Genomic information is then matched to clinical phenotype with appropriate statistical method applied.

Conditions

22q11.2 Deletion Syndrome

Keywords

22q11.2 deletion syndrome; velo-cardio-facial syndrome; congenital anomalies; mental illness; congenital heart disease

Outcome Measures

Primary Outcomes (1)

• gene signal strength

  4 years

Secondary Outcomes (1)

• physical phenotype

  4 years

Study Arms (1)

Individuals with 22q11.2 deletions

Individuals confirmed with the diagnosis of velo-cardio-facial syndrome by positive FISH or CGH microarray confirming the diagnosis and deletion of 22q11.2

Other: Observation

Interventions

Observation OTHER

Observe development of syndrome over time

Individuals with 22q11.2 deletions

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All individuals with velo-cardio-facial syndrome confirmed by FISH

You may qualify if:

• FISH confirmed diagnosis of 22q11.2 deletion syndrome

You may not qualify if:

• none

Sponsors & Collaborators

• State University of New York - Upstate Medical University: lead
• Albert Einstein College of Medicine: collaborator

Study Sites (1)

VCFS International Center

Syracuse, New York, 13210, United States

Location

Related Publications (1)

• Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W. Velo-cardio-facial syndrome. Curr Opin Pediatr. 2005 Dec;17(6):725-30. doi: 10.1097/01.mop.0000184465.73833.0b.

  PMID: 16282778 RESULT

Related Links

• Web site of the location for the investigation

Biospecimen

Retention: SAMPLES WITH DNA

peripheral blood

MeSH Terms

Conditions

DiGeorge Syndrome; Congenital Abnormalities; Mental Disorders; Heart Defects, Congenital

Interventions

Observation

Condition Hierarchy (Ancestors)

22q11 Deletion Syndrome; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Lymphatic Abnormalities; Lymphatic Diseases; Hemic and Lymphatic Diseases; Abnormalities, Multiple; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Hypoparathyroidism; Parathyroid Diseases; Endocrine System Diseases

Intervention Hierarchy (Ancestors)

Methods; Investigative Techniques

Study Officials

• Robert J Shprintzen, PhD

  Upstate Medical University

  PRINCIPAL INVESTIGATOR

• Bernice Morrow, PhD

  Albert Einstein College of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: March 24, 2008
• First Posted: June 10, 2009
• Study Start: March 1, 2008
• Primary Completion: February 1, 2015
• Study Completion: February 1, 2015
• Last Updated: October 20, 2021

Record last verified: 2010-08

Locations

US (1)